{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:58Z","timestamp":1791098818572,"version":"4.1.0"},"reference-count":20,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1996,2,1]]},"DOI":"10.1136\/jnnp.60.2.195","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T22:20:59Z","timestamp":1226355659000},"page":"195-196","source":"Crossref","is-referenced-by-count":18,"title":["Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy."],"prefix":"10.1136","volume":"60","author":[{"given":"R M","family":"Chalmers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A C","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"issue":"1","key":"ref_1","first-page":"173","article-title":"Dell'atrofia progressiva nervosa. Bollettinlo della R Accadenzia Medico-Chirurgica","volume":"1889","author":"Vizioli, F.","unstructured":"Vizioli F. Dell'atrofia progressiva nervosa. Bollettinlo della R Accadenzia Medico-Chirurgica di Napoli 1889,1:173-83.","journal-title":"di Napoli"},{"key":"ref_2","article-title":"L'amyotrophie type Charcot-Marie","author":"Sainton, P.","year":"1899","unstructured":"Sainton P. L'amyotrophie type Charcot-Marie. [MD Thesis] University of Paris, Paris, 1899."},{"key":"ref_3","first-page":"522","article-title":"Un cas d'amyotrophie du type CharcotMarie avec atrophie des deux nerfs optiques","volume":"12","author":"Ballet, G.; Rose, F.","year":"1904","unstructured":"Ballet G, Rose F. Un cas d'amyotrophie du type CharcotMarie avec atrophie des deux nerfs optiques. Rev Neurol 1904;12:522-4.","journal-title":"Rev Neurol"},{"issue":"85","key":"ref_4","first-page":"541","article-title":"Charcot-Marie-Tooth disease with primary optic atrophy. Report of two cases occurring in brothers..7 Nerv","volume":"1937","author":"Schneider, D.E.; Abeles, M.M.","unstructured":"Schneider DE, Abeles MM. Charcot-Marie-Tooth disease with primary optic atrophy. Report of two cases occurring in brothers..7 Nerv Ment Dis 1937,85:541-7.","journal-title":"Ment Dis"},{"key":"ref_5","first-page":"302","article-title":"Atrophie musculaire neurogene du type Charcot-Marie-ToothHoffman, associee a une atrophie optique bilaterale","volume":"56","author":"Brihaye, M.; Nenquin-Klaassen, E.; Bertholet, G.","year":"1956","unstructured":"Brihaye M, Nenquin-Klaassen E, Bertholet G. Atrophie musculaire neurogene du type Charcot-Marie-ToothHoffman, associee a une atrophie optique bilaterale. Acta Neurologica et Psychiatrica Belgica 1956;56:302-12.","journal-title":"Acta Neurologica et Psychiatrica Belgica"},{"key":"ref_6","first-page":"23","article-title":"A family with CharcotMarie-Tooth disease and Leber's optic atrophy","volume":"12","author":"McLeod, J.G.; Low, P.A.; Morgan, J.A.","year":"1975","unstructured":"McLeod JG, Low PA, Morgan JA. A family with CharcotMarie-Tooth disease and Leber's optic atrophy. Proceeditngs of the Australiani Associationi for Neurology 1975;12:23-5.","journal-title":"Proceeditngs of the Australiani Associationi for Neurology"},{"issue":"30","key":"ref_7","first-page":"354","article-title":"Remarks on primary neurotic atrophy (CharcotMarie-Hoffman type) with report of a case in which there was excessive indulgence in tea and coffee","volume":"1903","author":"Gordon, A.","unstructured":"Gordon A. Remarks on primary neurotic atrophy (CharcotMarie-Hoffman type) with report of a case in which there was excessive indulgence in tea and coffee. _7 Nerve Menit Dis 1903;30:354-9.","journal-title":"_7 Nerve Menit Dis"},{"key":"ref_8","first-page":"503","article-title":"Atrophia nervi optici und neurotische","volume":"16","author":"Krauss, W.","year":"1916","unstructured":"Krauss W. Atrophia nervi optici und neurotische Muskelatrophie. Zeitschnft fur Augeniheilkunde 1916;16: 503-16."},{"key":"ref_9","article-title":"L'amyotrophie Charcot-Marie","author":"Piton, J.","year":"1941","unstructured":"Piton J. L'amyotrophie Charcot-Marie. [MD Thesis] University of Paris, Paris, 1941."},{"issue":"64","key":"ref_10","first-page":"925","article-title":"Charcot-Marie-Tooth disease with primary optic atrophy. Report of a case","volume":"1960","author":"Hoyt, W.F.","unstructured":"Hoyt WF. Charcot-Marie-Tooth disease with primary optic atrophy. Report of a case. Arch Ophthal\/mol 1960; 64:925-8.","journal-title":"Arch Ophthal\/mol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1007\/BF02189534","article-title":"Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli)","volume":"240","author":"Weiller, C.; Ferbert, A.","year":"1991","unstructured":"Weiller C, Ferbert A. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli). Eur Arch Psychiatry Clin Neurosci 1991;240: 246-9.","journal-title":"Eur Arch Psychiatry Clin Neurosci"},{"key":"ref_12","first-page":"1094","article-title":"Hereditary motor and sensory neuropathies","author":"Dyck, P.J.; Chance, P.; Lebo, R.; Camey, J.A.","year":"1993","unstructured":"Dyck PJ, Chance P, Lebo R, Camey JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993: 1094-136."},{"key":"ref_13","first-page":"183","article-title":"Diagnostic criteria in dominantly inherited juvenile optic atrophy. A report of three new families","volume":"49","author":"Smith, D.P.","year":"1972","unstructured":"Smith DP. Diagnostic criteria in dominantly inherited juvenile optic atrophy. A report of three new families. Americani J7ournal of Opthalnmology 1972;49: 183-200."},{"key":"ref_14","first-page":"360","article-title":"Visual prognosis in autosomal dominant optic atrophy (Kjer type)","volume":"115","author":"Eliott, D.; Traboulsi, E.I.; Maumenee, I.H.","year":"1993","unstructured":"Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Ani _7 Ophthalnmol 1993;115:360-7."},{"key":"ref_15","first-page":"98","article-title":"Color vision in dominant optic atrophy. _7 Clini","volume":"12","author":"Mantyjarvi, M.I.; Nerdrum, K.; Tuppurainen, K.","year":"1992","unstructured":"Mantyjarvi MI, Nerdrum K, Tuppurainen K. Color vision in dominant optic atrophy. _7 Clini Neuro-ophthalmol 1992; 12:98-103.","journal-title":"Neuro-ophthalmol"},{"issue":"60","key":"ref_16","first-page":"1132","article-title":"Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity?","volume":"1970","author":"Krill, A.E.; Smith, V.C.; Pokomy, J.","year":"]","unstructured":"Krill AE, Smith VC, Pokomy J. Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity? ] Opt Soc Ami 1970,60:1132-9.","journal-title":"Opt Soc Ami"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ajmg.1320330108","article-title":"Optic atrophy, hearing loss, and peripheral neuropathy","volume":"33","author":"Hagemoser, K.; Weinstein, J.; Bresnick, G.; Nellis, R.; Kirkpatrick, S.; Pauli, R.M.","year":"1989","unstructured":"Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM. Optic atrophy, hearing loss, and peripheral neuropathy. Ami _7 Med Genzet 1989;33: 61-5.","journal-title":"Ami _7 Med Genzet"},{"key":"ref_18","first-page":"50","volume-title":"Proc R Soc Med 1913,6","author":"atrophy, Taylor J.Peroneal","unstructured":"Taylor J. Peroneal atrophy. Proc R Soc Med 1913,6:50."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1212\/WNL.17.9.827","article-title":"Familial optoacoustic nerve degeneration and polyneuropathy","volume":"17","author":"Rosenberg, R.N.; Chutorian, A.","year":"1967","unstructured":"Rosenberg RN, Chutorian A. Familial optoacoustic nerve degeneration and polyneuropathy. Neurology 1967;17: 827-32.","journal-title":"Neurology"},{"key":"ref_20","first-page":"977","article-title":"Dominant optic atrophy (OPAl) mapped to chromosome 3q region","volume":"3","author":"Eiberg, H.; Kjer, B.; Kjer, P.; Rosenberg, T.","year":"1994","unstructured":"Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPAl) mapped to chromosome 3q region. I. Linkage analysis. Huniani Molecular Genetics 1994;3: 977-80.","journal-title":"I. Linkage analysis. Huniani Molecular Genetics"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.60.2.195","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:52:08Z","timestamp":1601088728000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.60.2.195"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,2,1]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1996,2,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.60.2.195","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1996,2,1]]}}}